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Paroxysmal neuromyotonia: A new sporadic channelopathy

Pulkes, T; Dejthevaporn, C; Apiwattanakul, M; Papsing, C; Hanna, MG; (2012) Paroxysmal neuromyotonia: A new sporadic channelopathy. NEUROMUSCULAR DISORDERS , 22 (6) 479 - 482. 10.1016/j.nmd.2012.01.004. Green open access

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Abstract

Neuromyotonia is a heterogeneous group of genetic and autoimmune channelopathies resulting in hyperexcitability of peripheral nerves. We report an unusual case of neuromyotonia, which to our knowledge has not been previously described. The patient developed intermittent attacks of severe painful muscle stiffness accompanied by sweating, myokymia and raised serum creatine kinase. Genetic analysis of KCNA1, KCNQ2 and SCN4A genes did not identify pathogenic mutation. Serum voltage-gated potassium channel antibody was also negative. He was successfully treated with acetazolamide and carbamazepine. This appears to be a new neuromuscular disease, “paroxysmal neuromyotonia”, the etiology of which is still unknown.

Type: Article
Title: Paroxysmal neuromyotonia: A new sporadic channelopathy
Open access status: An open access version is available from UCL Discovery
DOI: 10.1016/j.nmd.2012.01.004
Publisher version: http://dx.doi.org/10.1016/j.nmd.2012.01.004
Language: English
Additional information: This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY), which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited. PubMed ID: 22305523
Keywords: Neuromyotonia, Channelopathies, Acetazolamide
UCL classification: UCL
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences > UCL Queen Square Institute of Neurology
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences > UCL Queen Square Institute of Neurology > Department of Neuromuscular Diseases
URI: https://discovery.ucl.ac.uk/id/eprint/1349969
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